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Al-Rabi N. Tawil, M.D.

Al-Rabi N. Tawil, M.D.

Contact

Appointment (585) 275-2559
Fax (585) 784-7919

About Me

Dr. Tawil is co-Director of the MDA Neuromuscular Disease Clinic at the University of Rochester. He is also Director of the Neuromuscular Pathology Laboratory and is responsible for the interpretation of all muscle biopsy samples use for diagnosing muscle diseases. His clinical interests include a...
Dr. Tawil is co-Director of the MDA Neuromuscular Disease Clinic at the University of Rochester. He is also Director of the Neuromuscular Pathology Laboratory and is responsible for the interpretation of all muscle biopsy samples use for diagnosing muscle diseases. His clinical interests include all acquired and inherited muscle diseases, myasthenia gravis and amyotrophic lateral sclerosis. He has special expertise in facioscapulohumeral muscular dystrophy (FSHD), the non-dystrophic myotonias and the periodic paralyses.

Faculty Appointments

Professor Emeritus - Department of Neurology, NMD (SMD)

Credentials

Post-doctoral Training & Residency

Fellow in Neuromuscular Disease
Strong Memorial Hospital, University of Rochester Medical Center
Rochester, NY
14642 1991 - 1993

Resident in Neurology
Strong Memorial Hospital, University of Rochester Medical Center
Rochester, NY
14642 1988 - 1991

Resident in Internal Medicine
Good Samaritan Hospital, Baltimore, MD 1986 - 1988

Internship in Medicine
American University of Beirut Medical Center 1985 - 1986

Education

MD | Lebanon-Sch Med Amer U Beirut. Medicine. 1985

MS | Lebanon - Non-Medical School. Physiology. 1981

BS | Emory University. Biology. 1979

Awards

Buswell Fellowship Award. 1994 - 1995

Muscular Dystrophy Association Fellowship. 1991 - 1993

Research

Dr. Tawil's current research interest in focused on FSHD and he is leading an international collaborative effort to understand the underlying molecular mechanisms in FSHD and work towards treatments to slow progression and improve strength in FSHD. Dr. Tawil also participated in a number of research...
Dr. Tawil's current research interest in focused on FSHD and he is leading an international collaborative effort to understand the underlying molecular mechanisms in FSHD and work towards treatments to slow progression and improve strength in FSHD. Dr. Tawil also participated in a number of research studies that helped identify the genetic cause for the different forms of periodic paralysis. More broadly, Dr. Tawil is interested in bringing new treatments to neuromuscular disorders and has participated and helped organize numerous neuromuscular treatment trials.

Clinical Trials

National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members

Lead Researcher: Al-rabi N Tawil

Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The goals of this Registry are to: 1. Help researchers collect and study inform...

Patents

Data Forms for: Cellular and Molecular Pathophysiology (CAMP) of Facioscapulohumeral Muscular Dystrophy (FSHD) Study

Issue date: December 18, 2009

Patent #: TXu 1-666-178

Country: United States

Inventors: Al-Rabi N Tawil

Patient Information Forms for FSHD (Facioscapulohumeral Muscular Dystrophy), DM (Myotonic Dystrophy), and Unaffected Blood Relatives of Individuals with FSH

Issue date: November 16, 2011

Patent #: TXu 1-790-681

Country: United States

Inventors: Michael McDermott, Richard T Moxley, III, Al-Rabi N Tawil, Charles A Thornton

Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)

Issue date: October 05, 2016

Patent #: 2606152

Country: Europe

Inventors: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Methods for Alleviating Facioscapulohumeral Dystrophy (FSHD) by an SiRNA Molecule Inhibiting the Expression of

Issue date: December 15, 2020

Patent #: 10,865,445

Country: United States

Inventors: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)

Issue date: October 05, 2016

Patent #: FR2606152

Country: France

Inventors: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)

Issue date: October 05, 2016

Patent #: 60 2011 031 061.5

Country: Germany

Inventors: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)

Issue date: October 05, 2016

Patent #: GB2606152

Country: United Kingdom

Inventors: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)

Issue date: October 09, 2019

Patent #: 3192880

Country: Europe

Inventors: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

DUX4-induced gene expression in Facioscapulohumeral Muscular Dystrophy (FSHD)

Issue date: November 13, 2019

Patent #: 3119909

Country: Europe

Inventors: Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel, Zizhen Yao

Facioscapulohumeral Dystrophy Composite Outcome Measure (FSHD-COM)

Issue date: August 17, 2017

Patent #: TXu 2-056-221

Country: United States

Inventors: Katy J Eichinger, Chad R Heatwole, Jeffery Statland, Al-Rabi N Tawil

Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)

Issue date: October 09, 2019

Patent #: FR3192880

Country: France

Inventors: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)

Issue date: October 09, 2019

Patent #: 602011062701.5

Country: Germany

Inventors: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)

Issue date: October 09, 2019

Patent #: GB3192880

Country: United Kingdom

Inventors: Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel

DUX4-induced gene expression in Facioscapulohumeral Muscular Dystrophy (FSHD)

Issue date: November 13, 2019

Patent #: FR319909

Country: France

Inventors: Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel, Zizhen Yao

DUX4-induced gene expression in Facioscapulohumeral Muscular Dystrophy (FSHD)

Issue date: November 13, 2019

Patent #: 602015041689.9

Country: Germany

Inventors: Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel, Zizhen Yao

DUX4-induced gene expression in Facioscapulohumeral Muscular Dystrophy (FSHD)

Issue date: November 13, 2019

Patent #: GB319909

Country: United Kingdom

Inventors: Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel, Zizhen Yao

DUX4-induced gene expression in Facioscapulohumeral Muscular Dystrophy (FSHD)

Issue date: November 13, 2019

Patent #: NL3119909

Country: Netherlands

Inventors: Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel, Zizhen Yao

Publications

Journal Articles

Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy.

Franken M, van der Wal E, Zheng D, den Hamer B, van der Vliet PJ, Lemmers RJLF, van den Heuvel A, Dorn AL, Duivenvoorden CGA, In't Groen SLM, Freund C, Eussen B, Tawil R, van Engelen BGM, Pijnappel PWWMP, van der Maarel SM, de Greef JC

Brain : a journal of neurology.. 2024 November 18 Epub 11/18/2024.

AI driven analysis of MRI to measure health and disease progression in FSHD.

Riem L, DuCharme O, Cousins M, Feng X, Kenney A, Morris J, Tapscott SJ, Tawil R, Statland J, Shaw D, Wang L, Walker M, Lewis L, Jacobs MA, Leung DG, Friedman SD, Blemker SS

Scientific reports.. 2024 July 514 (1):15462. Epub 07/05/2024.

Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.

Tawil R, Wagner KR, Hamel JI, Leung DG, Statland JM, Wang LH, Genge A, Sacconi S, Lochmüller H, Reyes-Leiva D, Diaz-Manera J, Alonso-Perez J, Muelas N, Vilchez JJ, Pestronk A, Gibson S, Goyal NA, Hayward LJ, Johnson N, LoRusso S, Freimer M, Shieh PB, Subramony SH, van Engelen B, Kools J, Leinhard OD, Widholm P, Morabito C, Moxham CM, Cadavid D, Mellion ML, Odueyungbo A, Tracewell WG, Accorsi A, Ronco L, Gould RJ, Shoskes J, Rojas LA, Jiang JG

The Lancet. Neurology.. 2024 May 23 (5):477-486. Epub 1900 01 01.

Engineered FSHD mutations results in D4Z4 heterochromatin disruption and feedforward DUX4 network activation.

Kong X, Nguyen NV, Li Y, Sakr JS, Williams K, Sharifi S, Chau J, Bayrakci A, Mizuno S, Takahashi S, Kiyono T, Tawil R, Mortazavi A, Yokomori K

iScience.. 2024 April 1927 (4):109357. Epub 02/29/2024.

Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.

Wong CJ, Friedman SD, Snider L, Bennett SR, Jones TI, Jones PL, Shaw DWW, Blemker SS, Riem L, DuCharme O, Lemmers RJFL, van der Maarel SM, Wang LH, Tawil R, Statland JM, Tapscott SJ

Human molecular genetics.. 2024 April 833 (8):698-708. Epub 1900 01 01.

A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD).

Varma A, Todinca MS, Eichinger K, Heininger S, Dilek N, Martens W, Tawil R, Statland J, Kissel JT, McDermott MP, Heatwole C

Muscle & nerve.. 2024 March 69 (3):362-367. Epub 01/08/2024.

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.

Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM

Brain : a journal of neurology.. 2024 February 1147 (2):414-426. Epub 1900 01 01.

Andersen-Tawil syndrome.

Goslinga JA, Ptá?ek LJ, Tawil R, Fay A

Handbook of clinical neurology.. 2024 203 :59-67. Epub 1900 01 01.

Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy.

Wang LH, Leung DG, Wagner KR, Lowry SJ, McDermott MP, Eichinger K, Higgs K, Walker M, Lewis L, Martens WB, Mul K, Sansone VA, Shieh P, Elsheikh B, LoRusso S, Butterfield RJ, Johnson N, Preston MR, Messina C, Carraro E, Tawil R, Statland J,

Neuromuscular disorders : NMD.. 2023 September 33 (9):63-68. Epub 06/21/2023.

Finding the Determinants of Disease Severity in Facioscapulohumeral Muscular Dystrophy.

Tawil R

Neurology.. 2023 July 18101 (3):97-98. Epub 06/05/2023.

Facioscapulohumeral muscular dystrophy: the road to targeted therapies.

Tihaya MS, Mul K, Balog J, de Greef JC, Tapscott SJ, Tawil R, Statland JM, van der Maarel SM

Nature reviews. Neurology.. 2023 February 19 (2):91-108. Epub 01/10/2023.

A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics.

Campbell AE, Arjomand J, King OD, Tawil R, Jagannathan S

Journal of neuromuscular diseases.. 2023 10 (6):1031-1040. Epub 1900 01 01.

Milestones of progression in myotonic dystrophy type 1 and type 2.

Hamel JI, McDermott MP, Hilbert JE, Martens WB, Luebbe E, Tawil R, Moxley RT, Thornton CA

Muscle & nerve.. 2022 October 66 (4):508-512. Epub 07/21/2022.

Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI: Composite Scores for Longitudinal and Cross-sectional Analysis.

Mellion ML, Widholm P, Karlsson M, Ahlgren A, Tawil R, Wagner KR, Statland JM, Wang L, Shieh PB, van Engelen BGM, Kools J, Ronco L, Odueyungbo A, Jiang J, Han JJ, Hatch M, Towles J, Leinhard OD, Cadavid D

Neurology.. 2022 August 3099 (9):e877-e889. Epub 06/24/2022.

Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole-body fat-referenced MRI: Protocol development, multicenter feasibility, and repeatability.

Widholm P, Ahlgren A, Karlsson M, Romu T, Tawil R, Wagner KR, Statland JM, Wang LH, Shieh PB, van Engelen BGM, Cadavid D, Ronco L, Odueyungbo AO, Jiang JG, Mellion ML, Leinhard OD

Muscle & nerve.. 2022 August 66 (2):183-192. Epub 06/11/2022.

Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy.

Statland JM, Campbell C, Desai U, Karam C, Díaz-Manera J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez-Padilla JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM

Muscle & nerve.. 2022 July 66 (1):50-62. Epub 05/09/2022.

Reply: Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population.

Katz NK, Hogan J, Delbango R, Cernik C, Tawil R, Statland JM

Brain : a journal of neurology.. 2022 June 30145 (6):e55-e56. Epub 1900 01 01.

Elevated plasma complement components in facioscapulohumeral dystrophy.

Wong CJ, Wang L, Holers VM, Frazer-Abel A, van der Maarel SM, Tawil R, Statland JM, Tapscott SJ, Network R

Human molecular genetics.. 2022 June 431 (11):1821-1829. Epub 1900 01 01.

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, , Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T

JAMA.. 2022 April 19327 (15):1456-1468. Epub 1900 01 01.

High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.

Lemmers RJLF, Vliet PJ, Granado DSL, Stoep N, Buermans H, Schendel R, Schimmel J, Visser M, Coster R, Jeanpierre M, Laforet P, Upadhyaya M, Engelen B, Sacconi S, Tawil R, Voermans NC, Rogers M, van der Maarel SM

Human molecular genetics.. 2022 March 331 (5):748-760. Epub 1900 01 01.

Chromosome 10q-linked FSHD identifies as principal disease gene.

Lemmers RJLF, van der Vliet PJ, Blatnik A, Balog J, Zidar J, Henderson D, Goselink R, Tapscott SJ, Voermans NC, Tawil R, Padberg GWAM, van Engelen BG, van der Maarel SM

Journal of medical genetics.. 2022 February 59 (2):180-188. Epub 01/12/2021.

Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy.

Schiava M, Amos R, VanRuiten H, McDermott MP, Martens WB, Gregory S, Mayhew A, McColl E, Tawil R, Willis T, Bushby K, Griggs RC, Guglieri M,

Neurology.. 2022 January 2498 (4):e390-e401. Epub 01/24/2022.

Cytosolic adaptation to mitochondria-induced proteostatic stress causes progressive muscle wasting.

Wang X, Middleton FA, Tawil R, Chen XJ

iScience.. 2022 January 2125 (1):103715. Epub 12/31/2021.

Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic.

Lewis L, Eichinger K, Dilek N, Higgs K, Walker M, Palmer D, Cooley JM, Johnson N, Tawil R, Statland J

Journal of neuromuscular diseases.. 2022 9 (4):517-523. Epub 1900 01 01.

Predictors of functional outcomes in patients with facioscapulohumeral muscular dystrophy.

Katz NK, Hogan J, Delbango R, Cernik C, Tawil R, Statland JM

Brain : a journal of neurology.. 2021 December 16144 (11):3451-3460. Epub 1900 01 01.

A Roadmap to Patient Engagement: Facioscapulohumeral Muscular Dystrophy and the ReSolve Clinical Trial.

LoRusso S, Eichinger K, Higgs K, Lewis L, Walker M, Albert J, Langer M, Tawil R, Statland JM, Kimminau KS

Neurology. Clinical practice.. 2021 October 11 (5):e722-e726. Epub 1900 01 01.

A patient-focused survey to assess the effects of the COVID-19 pandemic and social guidelines on people with muscular dystrophy.

Eichinger K, Lewis L, Dilek N, Higgs K, Walker M, Palmer D, , Cooley JM, Johnson N, Tawil R, Statland J

Muscle & nerve.. 2021 September 64 (3):321-327. Epub 06/25/2021.

The facioscapulohumeral muscular dystrophy Rasch-built overall disability scale (FSHD-RODS).

Mul K, Hamadeh T, Horlings CGC, Tawil R, Statland JM, Sacconi S, Corbett AJ, Voermans NC, Faber CG, van Engelen BGM, Merkies ISJ

European journal of neurology.. 2021 July 28 (7):2339-2348. Epub 05/02/2021.

A Pediatric Case of Granulomatous Myositis and Response to Treatment.

Abdul-Aziz R, Sioufi HJ, Pokorny C, Tawil R

Cure?us.. 2021 April 1513 (4):e14507. Epub 04/15/2021.

Relationship of DUX4 and target gene expression in FSHD myocytes.

Chau J, Kong X, Nguyen N, Williams K, Tawil R, Kiyono T, Mortazavi A, Yokomori K

Human mutation.. 2021 April 42 (4):421-433. Epub 02/04/2021.

Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy.

Wang LH, Shaw DWW, Faino A, Budech CB, Lewis LM, Statland J, Eichinger K, Tapscott SJ, Tawil RN, Friedman SD

BMC musculoskeletal disorders.. 2021 March 1022 (1):262. Epub 03/10/2021.

Mexiletine in Myotonic Dystrophy Type 1: A Randomized, Double-Blind, Placebo-Controlled Trial.

Heatwole C, Luebbe E, Rosero S, Eichinger K, Martens W, Hilbert J, Dekdebrun J, Dilek N, Zizzi C, Johnson N, Puwanant A, Tawil R, Schifitto G, Beck CA, Richeson JF, Zareba W, Thornton C, McDermott MP, Moxley R

Neurology.. 2021 January 1296 (2):e228-e240. Epub 10/12/2020.

Current Therapeutic Approaches in FSHD.

Wang LH, Tawil R

Journal of neuromuscular diseases.. 2021 8 (3):441-451. Epub 1900 01 01.

Developmental exposure to methylmercury and resultant muscle mercury accumulation and adult motor deficits in mice.

Rand MD, Conrad K, Marvin E, Harvey K, Henderson D, Tawil R, Sobolewski M, Cory-Slechta DA

Neurotoxicology.. 2020 December 81 :1-10. Epub 07/28/2020.

Spinal Cord and Motor Neuron TDP-43 Pathology in a Sporadic Inclusion Body Myositis Patient.

Cathcart SJ, Greene EP, Powell SZ, Arumanayagam AS, Rivera AL, Tawil R, Appel SH, Cykowski MD

Journal of neuropathology and experimental neurology.. 2020 October 179 (10):1130-1133. Epub 1900 01 01.

Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity.

Banerji CRS, Henderson D, Tawil RN, Zammit PS

Human molecular genetics.. 2020 September 2929 (16):2746-2760. Epub 1900 01 01.

p38 Regulates Expression of DUX4 in a Model of Facioscapulohumeral Muscular Dystrophy.

Rojas LA, Valentine E, Accorsi A, Maglio J, Shen N, Robertson A, Kazmirski S, Rahl P, Tawil R, Cadavid D, Thompson LA, Ronco L, Chang A, Cacace A, Wallace O

The Journal of pharmacology and experimental therapeutics.. 2020 September 374 (3):489-498. Epub 06/23/2020.

Case Studies on the Genetic and Clinical Diagnosis of Facioscapulohumeral Muscular Dystrophy.

Hamel J, Tawil R

Neurologic clinics.. 2020 August 38 (3):529-540. Epub 1900 01 01.

Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei.

Jiang S, Williams K, Kong X, Zeng W, Nguyen NV, Ma X, Tawil R, Yokomori K, Mortazavi A

PLoS genetics.. 2020 May 16 (5):e1008754. Epub 05/04/2020.

Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies.

Wong CJ, Wang LH, Friedman SD, Shaw D, Campbell AE, Budech CB, Lewis LM, Lemmers RJFL, Statland JM, van der Maarel SM, Tawil RN, Tapscott SJ

Human molecular genetics.. 2020 April 1529 (6):1030-1043. Epub 1900 01 01.

Intronic variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.

Goossens R, van den Boogaard ML, Lemmers RJLF, Balog J, van der Vliet PJ, Willemsen IM, Schouten J, Maggio I, van der Stoep N, Hoeben RC, Tapscott SJ, Geijsen N, Gonçalves MAFV, Sacconi S, Tawil R, van der Maarel SM

Journal of medical genetics.. 2019 December 56 (12):828-837. Epub 11/01/2019.

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.

Lemmers RJLF, van der Stoep N, Vliet PJV, Moore SA, San Leon Granado D, Johnson K, Topf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Shaw ND, Selvatici R, Ferlini A, Voermans N, van Engelen B, Sacconi S, Tawil R, Lamers M, van der Maarel SM

Journal of medical genetics.. 2019 October 56 (10):693-700. Epub 06/26/2019.

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients.

van der Wal E, den Hamer B, van der Vliet PJ, Tok M, Brands T, Eussen B, Lemmers RJLF, Freund C, de Klein A, Buijsen RAM, van Roon-Mom WMC, Tawil R, van der Maarel SM, de Greef JC

Stem cell research.. 2019 October 40 :101560. Epub 08/28/2019.

Patient-Reported Symptoms in Facioscapulohumeral Muscular Dystrophy (PRISM-FSHD).

Hamel J, Johnson N, Tawil R, Martens WB, Dilek N, McDermott MP, Heatwole C

Neurology.. 2019 September 1793 (12):e1180-e1192. Epub 08/13/2019.

Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study.

LoRusso S, Johnson NE, McDermott MP, Eichinger K, Butterfield RJ, Carraro E, Higgs K, Lewis L, Mul K, Sacconi S, Sansone VA, Shieh P, van Engelen B, Wagner K, Wang L, Statland JM, Tawil R,

BMC neurology.. 2019 September 1019 (1):224. Epub 09/10/2019.

Clinically Advanced p38 Inhibitors Suppress DUX4 Expression in Cellular and Animal Models of Facioscapulohumeral Muscular Dystrophy.

Oliva J, Galasinski S, Richey A, Campbell AE, Meyers MJ, Modi N, Zhong JW, Tawil R, Tapscott SJ, Sverdrup FM

The Journal of pharmacology and experimental therapeutics.. 2019 August 370 (2):219-230. Epub 06/12/2019.

Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development.

Heuvel AVD, Mahfouz A, Kloet SL, Balog J, Engelen BGMV, Tawil R, Tapscott SJ, Maarel SMV

Human molecular genetics.. 2019 April 128 (7):1064-1075. Epub 1900 01 01.

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD.

Wang LH, Friedman SD, Shaw D, Snider L, Wong CJ, Budech CB, Poliachik SL, Gove NE, Lewis LM, Campbell AE, Lemmers RJFL, Maarel SM, Tapscott SJ, Tawil RN

Human molecular genetics.. 2019 February 128 (3):476-486. Epub 1900 01 01.

Long Exercise Test in Periodic Paralysis: A Bayesian Analysis.

Simmons DB, Lanning J, Cleland JC, Puwanant A, Twydell PT, Griggs RC, Tawil R, Logigian EL

Muscle & nerve.. 2019 January 59 (1):47-54. Epub 08/29/2018.

Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense mutation.

Deeb R, Veerapandiyan A, Tawil R, Treidler S

Neurology. Genetics.. 2018 December 4 (6):e284. Epub 10/25/2018.

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.

Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM

Human molecular genetics.. 2018 October 1527 (20):3488-3497. Epub 1900 01 01.

Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments.

Hamel J, Tawil R

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics.. 2018 October 15 (4):863-871. Epub 1900 01 01.

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM

Neurology.. 2018 August 791 (6):e562-e570. Epub 07/06/2018.

Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.

Lim JW, Wong CJ, Yao Z, Tawil R, van der Maarel SM, Miller DG, Tapscott SJ, Filippova GN

Human molecular genetics.. 2018 August 127 (15):2644-2657. Epub 1900 01 01.

Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study.

Mul K, Heatwole C, Eichinger K, Dilek N, Martens WB, van Engelen BGM, Tawil R, Statland JM

Muscle & nerve.. 2018 August 58 (2):213-218. Epub 04/17/2018.

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, Heuvel AVD, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel SM

Journal of medical genetics.. 2018 July 55 (7):469-478. Epub 03/21/2018.

A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.

Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M

Trials.. 2018 May 1019 (1):291. Epub 05/10/2018.

Review of the Diagnosis and Treatment of Periodic Paralysis.

Statland JM, Fontaine B, Hanna MG, Johnson N, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC

Muscle & nerve.. 2018 April 57 (4):522-530. Epub 11/29/2017.

NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins.

Campbell AE, Shadle SC, Jagannathan S, Lim JW, Resnick R, Tawil R, van der Maarel SM, Tapscott SJ

eLife.. 2018 March 137 Epub 03/13/2018.

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

de Greef JC, Krom YD, den Hamer B, Snider L, Hiramuki Y, van den Akker RFP, Breslin K, Pakusch M, Salvatori DCF, Slütter B, Tawil R, Blewitt ME, Tapscott SJ, van der Maarel SM

Human molecular genetics.. 2018 February 1527 (4):716-731. Epub 1900 01 01.

Facioscapulohumeral muscular dystrophy functional composite outcome measure.

Eichinger K, Heatwole C, Iyadurai S, King W, Baker L, Heininger S, Bartlett A, Dilek N, Martens WB, McDermott M, Kissel JT, Tawil R, Statland JM

Muscle & nerve.. 2018 January 30 Epub 01/30/2018.

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

Lemmers RJ, van der Vliet PJ, Balog J, Goeman JJ, Arindrarto W, Krom YD, Straasheijm KR, Debipersad RD, Özel G, Sowden J, Snider L, Mul K, Sacconi S, van Engelen B, Tapscott SJ, Tawil R, van der Maarel SM

European journal of human genetics : EJHG.. 2018 January 26 (1):94-106. Epub 11/21/2017.

Facioscapulohumeral muscular dystrophy.

Tawil R

Handbook of clinical neurology.. 2018 148 :541-548. Epub 1900 01 01.

High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2.

Hilbert JE, Barohn RJ, Clemens PR, Luebbe EA, Martens WB, McDermott MP, Parkhill AL, Tawil R, Thornton CA, Moxley RT,

Neurology.. 2017 September 2689 (13):1348-1354. Epub 08/30/2017.

BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.

Campbell AE, Oliva J, Yates MP, Zhong JW, Shadle SC, Snider L, Singh N, Tai S, Hiramuki Y, Tawil R, van der Maarel SM, Tapscott SJ, Sverdrup FM

Skeletal muscle. 2017 September 47 (1):16. Epub 09/04/2017.

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, Shieh PB, Straub V, Childs AM, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC

Contemporary clinical trials.. 2017 July 58 :34-39. Epub 04/24/2017.

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.

Mason AG, Slieker RC, Balog J, Lemmers RJLF, Wong CJ, Yao Z, Lim JW, Filippova GN, Ne E, Tawil R, Heijmans BT, Tapscott SJ, van der Maarel SM

Skeletal muscle. 2017 June 67 (1):12. Epub 06/06/2017.

Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.

Panosyan FB, Tawil R, Herrmann DN

Muscle & nerve.. 2017 June 55 (6):922-927. Epub 02/12/2017.

Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy.

Eichinger K, Heatwole C, Heininger S, Stinson N, Matichak Stock C, Grosmann C, Wagner KR, Tawil R, Statland JM,

Muscle & nerve.. 2017 March 55 (3):333-337. Epub 12/05/2016.

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.

Mason AG, Slieker RC, Balog J, Lemmers RJLF, Wong CJ, Yao Z, Lim JW, Filippova GN, Ne E, Tawil R, Heijmans BT, Tapscott SJ, van der Maarel SM

Skeletal muscle. 2017 7 :12. Epub 06/06/2017.

Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells.

Jagannathan S, Shadle SC, Resnick R, Snider L, Tawil RN, van der Maarel SM, Bradley RK, Tapscott SJ

Human molecular genetics.. 2016 October 1525 (20):4419-4431. Epub 1900 01 01.

Electrical impedance myography in facioscapulohumeral muscular dystrophy.

Statland JM, Heatwole C, Eichinger K, Dilek N, Martens WB, Tawil R

Muscle & nerve.. 2016 October 54 (4):696-701. Epub 05/25/2016.

Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells.

Jagannathan S, Shadle S, Resnick R, Snider L, Tawil RN, van der Maarel SM, Bradley RK, Tapscott SJ

Human molecular genetics.. 2016 August 15 Epub 08/15/2016.

Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015.

Tawil R, Mah JK, Baker S, Wagner KR, Ryan MM,

Neuromuscular disorders : NMD.. 2016 July 26 (7):462-71. Epub 04/25/2016.

A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD).

Petek LM, Rickard AM, Budech C, Poliachik SL, Shaw D, Ferguson MR, Tawil R, Friedman SD, Miller DG

Neuromuscular disorders : NMD.. 2016 July 26 (7):405-13. Epub 04/22/2016.

Facioscapulohumeral Dystrophy.

Wang LH, Tawil R

Current neurology and neuroscience reports.. 2016 July 16 (7):66. Epub 1900 01 01.

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

van den Boogaard ML, Lemmers RJ, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RF, Kriek M, Laurense-Bik ME, Raz V, van Ostaijen-Ten Dam MM, Hansson KB, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJ, Nishino I, Tawil R, Tapscott SJ, van Engelen BG, van der Maarel SM

American journal of human genetics.. 2016 May 598 (5):1020-1029. Epub 1900 01 01.

Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.

Sansone VA, Burge J, McDermott MP, Smith PC, Herr B, Tawil R, Pandya S, Kissel J, Ciafaloni E, Shieh P, Ralph JW, Amato A, Cannon SC, Trivedi J, Barohn R, Crum B, Mitsumoto H, Pestronk A, Meola G, Conwit R, Hanna MG, Griggs RC,

Neurology.. 2016 April 1286 (15):1408-1416. Epub 02/10/2016.

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York.

Tawil R, Padberg GW, Shaw DW, van der Maarel SM, Tapscott SJ,

Neuromuscular disorders : NMD.. 2016 February 26 (2):181-6. Epub 11/09/2015.

Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine.

Burns TM, Smith GA, Allen JA, Amato AA, Arnold WD, Barohn R, Benatar M, Bird SJ, Bromberg M, Chahin N, Ciafaloni E, Cohen JA, Corse A, Crum BA, David WS, Dimberg E, De Sousa EA, Donofrio PD, Dyck PJ, Engel AG, Ensrud ER, Ferrante M, Freimer M, Gable KL, Gibson S, Gilchrist JM, Goldstein JM, Gooch CL, Goodman BP, Gorelov D, Gospe SM, Goyal NA, Guidon AC, Guptill JT, Gutmann L, Gutmann L, Gwathmey K, Harati Y, Harper CM, Hehir MK, Hobson-Webb LD, Howard JF, Jackson CE, Johnson N, Jones SM, Juel VC, Kaminski HJ, Karam C, Kennelly KD, Khella S, Khoury J, Kincaid JC, Kissel JT, Kolb N, Lacomis D, Ladha S, Larriviere D, Lewis RA, Li Y, Litchy WJ, Logigian E, Lou JS, MacGowen DJ, Maselli R, Massey JM, Mauermann ML, Mathews KD, Meriggioli MN, Miller RG, Moon JS, Mozaffar T, Nations SP, Nowak RJ, Ostrow LW, Pascuzzi RM, Peltier A, Ruzhansky K, Richman DP, Ross MA, Rubin DI, Russell JA, Sachs GM, Salajegheh MK, Saperstein DS, Scelsa S, Selcen D, Shaibani A, Sheih PB, Silvestri NJ, Singleton JR, Smith BE, So YT, Solorzano G, Sorenson EJ, Srinivasen J, Tavee J, Tawil R, Thaisetthawatkul P, Thornton C, Trivedi J, Vernino S, Wang AK, Webb TA, Weiss MD, Windebank AJ, Wolfe GI

Muscle & nerve.. 2016 February 53 (2):165-8. Epub 12/21/2015.

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.

van den Boogaard ML, Lemmers RJ, Camaño P, van der Vliet PJ, Voermans N, van Engelen BG, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM

European journal of human genetics : EJHG.. 2016 January 24 (1):78-85. Epub 03/18/2015.

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats.

Statland JM, Donlin-Smith CM, Tapscott SJ, Lemmers RJ, van der Maarel SM, Tawil R

Neurology.. 2015 December 1585 (24):2147-50. Epub 11/11/2015.

Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies.

Statland JM, Shah B, Henderson D, van der Maarel S, Tapscott SJ, Tawil R

Muscle & nerve.. 2015 October 52 (4):521-6. Epub 06/18/2015.

DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.

Lim JW, Snider L, Yao Z, Tawil R, Van Der Maarel SM, Rigo F, Bennett CF, Filippova GN, Tapscott SJ

Human molecular genetics.. 2015 September 124 (17):4817-28. Epub 06/03/2015.

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Tawil R, Kissel JT, Heatwole C, Pandya S, Gronseth G, Benatar M

Neurology.. 2015 July 2885 (4):357-64. Epub 1900 01 01.

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.

Lemmers RJ, van den Boogaard ML, van der Vliet PJ, Donlin-Smith CM, Nations SP, Ruivenkamp CA, Heard P, Bakker B, Tapscott S, Cody JD, Tawil R, van der Maarel SM

Human mutation.. 2015 July 36 (7):679-83. Epub 05/20/2015.

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM

Human molecular genetics.. 2015 February 124 (3):659-69. Epub 09/25/2014.

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.

Feng Q, Snider L, Jagannathan S, Tawil R, van der Maarel SM, Tapscott SJ, Bradley RK

eLife.. 2015 January 74 Epub 01/07/2015.

Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies.

Statland JM, Odrzywolski KJ, Shah B, Henderson D, Fricke AF, van der Maarel SM, Tapscott SJ, Tawil R

Journal of neuromuscular diseases.. 2015 2 (3):291-299. Epub 1900 01 01.

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, de Jong A, F Lemmers RJ, Tawil R, Tapscott SJ, van der Maarel SM

Epigenetics.. 2015 10 (12):1133-42. Epub 1900 01 01.

Restrictive lung involvement in facioscapulohumeral muscular dystrophy.

Scully MA, Eichinger KJ, Donlin-Smith CM, Tawil R, Statland JM

Muscle & nerve.. 2014 November 50 (5):739-43. Epub 09/29/2014.

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.

Yao Z, Snider L, Balog J, Lemmers RJ, Van Der Maarel SM, Tawil R, Tapscott SJ

Human molecular genetics.. 2014 October 1523 (20):5342-52. Epub 05/26/2014.

Post-exercise increment in compound muscle action potential amplitude in hyperkalemic periodic paralysis.

Cleland JC, Tawil R

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology.. 2014 October 125 (10):2134-5. Epub 02/17/2014.

Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.

Zeng W, Chen YY, Newkirk DA, Wu B, Balog J, Kong X, Ball AR, Zanotti S, Tawil R, Hashimoto N, Mortazavi A, van der Maarel SM, Yokomori K

Human mutation.. 2014 August 35 (8):998-1010. Epub 06/24/2014.

Facioscapulohumeral muscular dystrophy.

Statland J, Tawil R

Neurologic clinics.. 2014 August 32 (3):721-8, ix. Epub 05/15/2014.

The motor neuron response to SMN1 deficiency in spinal muscular atrophy.

Kang PB, Gooch CL, McDermott MP, Darras BT, Finkel RS, Yang ML, Sproule DM, Chung WK, Kaufmann P, de Vivo DC,

Muscle & nerve.. 2014 May 49 (5):636-44. Epub 1900 01 01.

Risk of functional impairment in Facioscapulohumeral muscular dystrophy.

Statland JM, Tawil R

Muscle & nerve.. 2014 April 49 (4):520-7. Epub 02/10/2014.

Clinical trial preparedness in facioscapulohumeral dystrophy: outcome measures and patient access: 8-9 April 2013, Leiden, The Netherlands.

Tawil R, Shaw DW, van der Maarel SM, Tapscott SJ

Neuromuscular disorders : NMD.. 2014 January 24 (1):79-85. Epub 08/02/2013.

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.

Tawil R, van der Maarel SM, Tapscott SJ

Skeletal muscle. 2014 4 :12. Epub 06/10/2014.

Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy.

Statland J, Donlin-Smith CM, Tapscott SJ, van der Maarel S, Tawil R

Journal of neuromuscular diseases.. 2014 1 (2):181-190. Epub 1900 01 01.

DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy.

Thijssen PE, Balog J, Yao Z, Pham TP, Tawil R, Tapscott SJ, Van der Maarel SM

Skeletal muscle. 2014 4 :19. Epub 10/24/2014.

Wnt/?-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells.

Block GJ, Narayanan D, Amell AM, Petek LM, Davidson KC, Bird TD, Tawil R, Moon RT, Miller DG

Human molecular genetics.. 2013 December 122 (23):4661-72. Epub 07/02/2013.

Splicing biomarkers of disease severity in myotonic dystrophy.

Nakamori M, Sobczak K, Puwanant A, Welle S, Eichinger K, Pandya S, Dekdebrun J, Heatwole CR, McDermott MP, Chen T, Cline M, Tawil R, Osborne RJ, Wheeler TM, Swanson M, Moxley RT, Thornton CA

Annals of neurology.. 2013 December 74 (6):862-72. Epub 1900 01 01.

188th ENMC International Workshop: Inclusion Body Myositis, 2-4 December 2011, Naarden, The Netherlands.

Rose MR,

Neuromuscular disorders : NMD.. 2013 December 23 (12):1044-55. Epub 08/30/2013.

DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.

Young JM, Whiddon JL, Yao Z, Kasinathan B, Snider L, Geng LN, Balog J, Tawil R, van der Maarel SM, Tapscott SJ

PLoS genetics.. 2013 November 9 (11):e1003947. Epub 11/21/2013.

Predicting hearing loss in facioscapulohumeral muscular dystrophy.

Darras BT, Tawil R

Neurology.. 2013 October 1581 (16):1370-1. Epub 09/16/2013.

The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.

Sacconi S, Lemmers RJ, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L, Casarin A, Pegoraro E, Tawil R, Bakker E, Tapscott SJ, Desnuelle C, van der Maarel SM

American journal of human genetics.. 2013 October 393 (4):744-51. Epub 09/26/2013.

Diagnostic odyssey of patients with myotonic dystrophy.

Hilbert JE, Ashizawa T, Day JW, Luebbe EA, Martens WB, McDermott MP, Tawil R, Thornton CA, Moxley RT

Journal of neurology.. 2013 October 260 (10):2497-504. Epub 06/27/2013.

High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial.

Lewis RA, McDermott MP, Herrmann DN, Hoke A, Clawson LL, Siskind C, Feely SM, Miller LJ, Barohn RJ, Smith P, Luebbe E, Wu X, Shy ME,

JAMA neurology.. 2013 August 70 (8):981-7. Epub 1900 01 01.

Corticosteroids in Duchenne muscular dystrophy: major variations in practice.

Griggs RC, Herr BE, Reha A, Elfring G, Atkinson L, Cwik V, McColl E, Tawil R, Pandya S, McDermott MP, Bushby K

Muscle & nerve.. 2013 July 48 (1):27-31. Epub 04/25/2013.

Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy.

Statland JM, McDermott MP, Heatwole C, Martens WB, Pandya S, van der Kooi EL, Kissel JT, Wagner KR, Tawil R

Neuromuscular disorders : NMD.. 2013 April 23 (4):306-12. Epub 02/11/2013.

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.

Krom YD, Thijssen PE, Young JM, den Hamer B, Balog J, Yao Z, Maves L, Snider L, Knopp P, Zammit PS, Rijkers T, van Engelen BG, Padberg GW, Frants RR, Tawil R, Tapscott SJ, van der Maarel SM

PLoS genetics.. 2013 April 9 (4):e1003415. Epub 04/04/2013.

Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size.

Statland JM, Sacconi S, Farmakidis C, Donlin-Smith CM, Chung M, Tawil R

Neurology.. 2013 March 2680 (13):1247-50. Epub 02/27/2013.

A focal domain of extreme demethylation within D4Z4 in FSHD2.

Hartweck LM, Anderson LJ, Lemmers RJ, Dandapat A, Toso EA, Dalton JC, Tawil R, Day JW, van der Maarel SM, Kyba M

Neurology.. 2013 January 2280 (4):392-9. Epub 01/02/2013.

SMA-MAP: a plasma protein panel for spinal muscular atrophy.

Kobayashi DT, Shi J, Stephen L, Ballard KL, Dewey R, Mapes J, Chung B, McCarthy K, Swoboda KJ, Crawford TO, Li R, Plasterer T, Joyce C, , Chung WK, Kaufmann P, Darras BT, Finkel RS, Sproule DM, Martens WB, McDermott MP, De Vivo DC, , Walker MG, Chen KS

PloS one.. 2013 8 (4):e60113. Epub 04/02/2013.

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM

Nature genetics.. 2012 December 44 (12):1370-4. Epub 11/11/2012.

Patient-identified disease burden in facioscapulohumeral muscular dystrophy.

Johnson NE, Quinn C, Eastwood E, Tawil R, Heatwole CR

Muscle & nerve.. 2012 December 46 (6):951-3. Epub 1900 01 01.

Design of the efficacy of prednisone in the treatment of ocular myasthenia (EPITOME) trial.

Benatar M, Sanders DB, Wolfe GI, McDermott MP, Tawil R

Annals of the New York Academy of Sciences.. 2012 December 1275 :17-22. Epub 1900 01 01.

Prospective cohort study of spinal muscular atrophy types 2 and 3.

Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB, Oskoui M, Constantinescu A, Gooch CL, Foley AR, Yang ML, Tawil R, Chung WK, Martens WB, Montes J, Battista V, O'Hagen J, Dunaway S, Flickinger J, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Punyanitya M, Montgomery MJ, Marra J, Koo B, De Vivo DC, ,

Neurology.. 2012 October 3079 (18):1889-97. Epub 10/17/2012.

Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD.

Krom YD, Dumonceaux J, Mamchaoui K, den Hamer B, Mariot V, Negroni E, Geng LN, Martin N, Tawil R, Tapscott SJ, van Engelen BG, Mouly V, Butler-Browne GS, van der Maarel SM

The American journal of pathology.. 2012 October 181 (4):1387-401. Epub 08/04/2012.

Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.

van der Maarel SM, Miller DG, Tawil R, Filippova GN, Tapscott SJ

Current opinion in neurology.. 2012 October 25 (5):614-20. Epub 1900 01 01.

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

Balog J, Thijssen PE, de Greef JC, Shah B, van Engelen BG, Yokomori K, Tapscott SJ, Tawil R, van der Maarel SM

Epigenetics.. 2012 June 17 (6):579-84. Epub 06/01/2012.

If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).

Hilbert JE, Kissel JT, Luebbe EA, Martens WB, McDermott MP, Sanders DB, Tawil R, Thornton CA, Moxley RT,

Contemporary clinical trials.. 2012 March 33 (2):302-11. Epub 11/26/2011.

DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.

Geng LN, Yao Z, Snider L, Fong AP, Cech JN, Young JM, van der Maarel SM, Ruzzo WL, Gentleman RC, Tawil R, Tapscott SJ

Developmental cell.. 2012 January 1722 (1):38-51. Epub 12/29/2011.

Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.

Block GJ, Petek LM, Narayanan D, Amell AM, Moore JM, Rabaia NA, Tyler A, van der Maarel SM, Tawil R, Filippova GN, Miller DG

PloS one.. 2012 7 (4):e35532. Epub 04/20/2012.

Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III.

Glanzman AM, O'Hagen JM, McDermott MP, Martens WB, Flickinger J, Riley S, Quigley J, Montes J, Dunaway S, Deng L, Chung WK, Tawil R, Darras BT, De Vivo DC, Kaufmann P, Finkel RS, ,

Journal of child neurology.. 2011 December 26 (12):1499-507. Epub 09/21/2011.

Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions.

Statland JM, Tawil R

Current opinion in neurology.. 2011 October 24 (5):423-8. Epub 1900 01 01.

Gene expression during normal and FSHD myogenesis.

Tsumagari K, Chang SC, Lacey M, Baribault C, Chittur SV, Sowden J, Tawil R, Crawford GE, Ehrlich M

BMC medical genomics.. 2011 September 274 :67. Epub 09/27/2011.

A randomized, pilot trial of etanercept in dermatomyositis.

Annals of neurology.. 2011 September 70 (3):427-36. Epub 06/17/2011.

Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.

Kaufmann P, McDermott MP, Darras BT, Finkel R, Kang P, Oskoui M, Constantinescu A, Sproule DM, Foley AR, Yang M, Tawil R, Chung W, Martens B, Montes J, O'Hagen J, Dunaway S, Flickinger JM, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Irvine C, Annis CL, Butler H, Caracciolo J, Montgomery M, Marra J, Koo B, De Vivo DC, ,

Archives of neurology.. 2011 June 68 (6):779-86. Epub 02/14/2011.

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.

van der Maarel SM, Tawil R, Tapscott SJ

Trends in molecular medicine.. 2011 May 17 (5):252-8. Epub 02/01/2011.

Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND).

Glanzman AM, McDermott MP, Montes J, Martens WB, Flickinger J, Riley S, Quigley J, Dunaway S, O'Hagen J, Deng L, Chung WK, Tawil R, Darras BT, Yang M, Sproule D, De Vivo DC, Kaufmann P, Finkel RS, ,

Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association.. 2011 23 (4):322-6. Epub 1900 01 01.

The authorship lottery: an impediment to research collaboration?

Kaufmann P, Annis C, Griggs RC,

Annals of neurology.. 2010 December 68 (6):782-6. Epub 1900 01 01.

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.

Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG

PLoS genetics.. 2010 October 286 (10):e1001181. Epub 10/28/2010.

Clinical features of facioscapulohumeral muscular dystrophy 2.

de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R

Neurology.. 2010 October 2675 (17):1548-54. Epub 1900 01 01.

What determines quality of life in inclusion body myositis?

Sadjadi R, Rose MR,

Journal of neurology, neurosurgery, and psychiatry.. 2010 October 81 (10):1164-6. Epub 07/02/2010.

Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females.

Stratigopoulos G, Lanzano P, Deng L, Guo J, Kaufmann P, Darras B, Finkel R, Tawil R, McDermott MP, Martens W, Devivo DC, Chung WK

Archives of neurology.. 2010 October 67 (10):1252-6. Epub 1900 01 01.

A unifying genetic model for facioscapulohumeral muscular dystrophy.

Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM

Science.. 2010 September 24329 (5999):1650-3. Epub 08/19/2010.

Grip force, EDL contractile properties, and voluntary wheel running after postdevelopmental myostatin depletion in mice.

Personius KE, Jayaram A, Krull D, Brown R, Xu T, Han B, Burgess K, Storey C, Shah B, Tawil R, Welle S

Journal of applied physiology.. 2010 September 109 (3):886-94. Epub 07/01/2010.

171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy.

Tawil R, van der Maarel S, Padberg GW, van Engelen BG

Neuromuscular disorders : NMD.. 2010 July 20 (7):471-5. Epub 1900 01 01.

Hypertensive effects of central angiotensin II infusion and restraint stress are reduced with age.

Erdos B, Cudykier I, Woods M, Basgut B, Whidden M, Tawil R, Cardounel AJ, Tümer N

Journal of hypertension.. 2010 June 28 (6):1298-306. Epub 1900 01 01.

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.

Masny PS, Chan OY, de Greef JC, Bengtsson U, Ehrlich M, Tawil R, Lock LF, Hewitt JE, Stocksdale J, Martin JH, van der Maarel SM, Winokur ST

European journal of human genetics : EJHG.. 2010 April 18 (4):448-56. Epub 11/04/2009.

Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy.

Montes J, McDermott MP, Martens WB, Dunaway S, Glanzman AM, Riley S, Quigley J, Montgomery MJ, Sproule D, Tawil R, Chung WK, Darras BT, De Vivo DC, Kaufmann P, Finkel RS,

Neurology.. 2010 March 974 (10):833-8. Epub 1900 01 01.

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.

Klooster R, Straasheijm K, Shah B, Sowden J, Frants R, Thornton C, Tawil R, van der Maarel S

European journal of human genetics : EJHG.. 2009 December 17 (12):1615-24. Epub 10/07/2009.

DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2.

Xu X, Tsumagari K, Sowden J, Tawil R, Boyle AP, Song L, Furey TS, Crawford GE, Ehrlich M

Nucleic acids research.. 2009 December 37 (22):7381-93. Epub 1900 01 01.

Resuscitated sudden cardiac death in Andersen-Tawil syndrome.

Airey KJ, Etheridge SP, Tawil R, Tristani-Firouzi M

Heart rhythm.. 2009 December 6 (12):1814-7. Epub 08/29/2009.

Relation between extent of myostatin depletion and muscle growth in mature mice.

Welle S, Burgess K, Thornton CA, Tawil R

American journal of physiology. Endocrinology and metabolism.. 2009 October 297 (4):E935-40. Epub 08/04/2009.

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM

Human mutation.. 2009 October 30 (10):1449-59. Epub 1900 01 01.

Skeletal muscle gene expression after myostatin knockout in mature mice.

Welle S, Cardillo A, Zanche M, Tawil R

Physiological genomics.. 2009 August 738 (3):342-50. Epub 06/09/2009.

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.

Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ

Human molecular genetics.. 2009 July 118 (13):2414-30. Epub 04/09/2009.

Randomized double-blind study of botulinum toxin type B for sialorrhea in ALS patients.

Jackson CE, Gronseth G, Rosenfeld J, Barohn RJ, Dubinsky R, Simpson CB, McVey A, Kittrell PP, King R, Herbelin L,

Muscle & nerve.. 2009 February 39 (2):137-43. Epub 1900 01 01.

Comparison of outcome measures from a trial of mycophenolate mofetil in myasthenia gravis.

Wolfe GI, Barohn RJ, Sanders DB, McDermott MP,

Muscle & nerve.. 2008 November 38 (5):1429-1433. Epub 1900 01 01.

Facioscapulohumeral muscular dystrophy.

Tawil R

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics.. 2008 October 5 (4):601-6. Epub 1900 01 01.

A trial of mycophenolate mofetil with prednisone as initial immunotherapy in myasthenia gravis.

Neurology.. 2008 August 571 (6):394-9. Epub 04/23/2008.

Less is more, or almost as much: a 15-item quality-of-life instrument for myasthenia gravis.

Burns TM, Conaway MR, Cutter GR, Sanders DB,

Muscle & nerve.. 2008 August 38 (2):957-63. Epub 1900 01 01.

Disease-specific measure of quality of life for myasthenia gravis.

Mullins LL, Carpentier MY, Paul RH, Sanders DB,

Muscle & nerve.. 2008 August 38 (2):947-56. Epub 1900 01 01.

A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy.

Wagner KR, Fleckenstein JL, Amato AA, Barohn RJ, Bushby K, Escolar DM, Flanigan KM, Pestronk A, Tawil R, Wolfe GI, Eagle M, Florence JM, King WM, Pandya S, Straub V, Juneau P, Meyers K, Csimma C, Araujo T, Allen R, Parsons SA, Wozney JM, Lavallie ER, Mendell JR

Annals of neurology.. 2008 May 63 (5):561-71. Epub 1900 01 01.

Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers.

Tsumagari K, Qi L, Jackson K, Shao C, Lacey M, Sowden J, Tawil R, Vedanarayanan V, Ehrlich M

Nucleic acids research.. 2008 April 36 (7):2196-207. Epub 02/16/2008.

Sex-related differences in gene expression in human skeletal muscle.

Welle S, Tawil R, Thornton CA

PloS one.. 2008 January 23 (1):e1385. Epub 01/02/2008.

Facioscapulohumeral dystrophy.

Pandya S, King WM, Tawil R

Physical therapy.. 2008 January 88 (1):105-13. Epub 11/06/2007.

An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients.

Flickinger J, O'Hagen JM, Quigley J, Glanzman AM, Riley S, McDermott MP, Sanborn E, Ryan PA, Irvine C, Flickinger J, Martens WB, Quigley J, Annis C, Riley S, Tawil R, Sanborn E, Oskoui M, Irvine C, Darras BT, Martens WB, Finkel RS, Annis C, De Vivo DC, Tawil R, Oskoui M, Darras BT, Finkel RS, De Vivo DC

Neuromuscular disorders : NMD.. 2007 October 17 (9-10):693-7. Epub 07/19/2007.

Muscle growth after postdevelopmental myostatin gene knockout.

Welle S, Bhatt K, Pinkert CA, Tawil R, Thornton CA

American journal of physiology. Endocrinology and metabolism.. 2007 April 292 (4):E985-91. Epub 12/05/2006.

Management and treatment of Andersen-Tawil syndrome (ATS).

Sansone V, Tawil R

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics.. 2007 April 4 (2):233-7. Epub 1900 01 01.

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.

Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R

Neurology.. 2007 February 2068 (8):569-77. Epub 12/06/2006.

Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.

Deak KL, Lemmers RJ, Stajich JM, Klooster R, Tawil R, Frants RR, Speer MC, van der Maarel SM, Gilbert JR

Neurology.. 2007 February 2068 (8):578-82. Epub 01/17/2007.

Neurologic channelopathies: evolving concepts and therapeutic challenges

Tawil,R.; Cannon,S. C.;.

Neurotherapeutics. 2007; 4(2): 173.

Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy.

Ciafaloni E, Pressman EK, Loi AM, Smirnow AM, Guntrum DJ, Dilek N, Tawil R

Neurology.. 2006 November 2867 (10):1887-9. Epub 1900 01 01.

Facioscapulohumeral muscular dystrophy.

Tawil R, Van Der Maarel SM

Muscle & nerve.. 2006 July 34 (1):1-15. Epub 1900 01 01.

The primary periodic paralyses: diagnosis, pathogenesis and treatment.

Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC,

Brain : a journal of neurology.. 2006 January 129 (Pt 1):8-17. Epub 09/29/2005.

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype.

Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, George AL, Horie M, Andelfinger G, Snow GL, Fu YH, Ackerman MJ, Vincent GM

Circulation.. 2005 May 31111 (21):2720-6. Epub 05/23/2005.

Interferon-alpha/beta-mediated innate immune mechanisms in dermatomyositis.

Greenberg SA, Pinkus JL, Pinkus GS, Burleson T, Sanoudou D, Tawil R, Barohn RJ, Saperstein DS, Briemberg HR, Ericsson M, Park P, Amato AA

Annals of neurology.. 2005 May 57 (5):664-78. Epub 1900 01 01.

Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights.

Mancuso M, Davidzon G, Kurlan RM, Tawil R, Bonilla E, Di Mauro S, Powers JM

Journal of neuropathology and experimental neurology.. 2005 April 64 (4):280-94. Epub 1900 01 01.

SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.

Venance SL, Jurkat-Rott K, Lehmann-Horn F, Tawil R

Neurology.. 2004 November 2363 (10):1977. Epub 1900 01 01.

Correlating phenotype and genotype in the periodic paralyses.

Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptácek LJ

Neurology.. 2004 November 963 (9):1647-55. Epub 1900 01 01.

Randomized pilot trial of high-dose betaINF-1a in patients with inclusion body myositis.

Neurology.. 2004 August 2463 (4):718-20. Epub 1900 01 01.

Facioscapulohumeral muscular dystrophy.

Tawil R

Current neurology and neuroscience reports.. 2004 January 4 (1):51-4. Epub 1900 01 01.

Drug treatment for facioscapulohumeral muscular dystrophy

Rose,M. R.; Tawil,R.;.

Cochrane database of systematic reviews (Online : Update Software). 2004; (2)(2): CD002276.

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T, Escolar DM, Fu YH, Ptácek LJ

Neurology.. 2003 June 1060 (11):1811-6. Epub 1900 01 01.

Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress.

Winokur ST, Barrett K, Martin JH, Forrester JR, Simon M, Tawil R, Chung SA, Masny PS, Figlewicz DA

Neuromuscular disorders : NMD.. 2003 May 13 (4):322-33. Epub 1900 01 01.

Commentary: Facioscapulohumeral muscular dystrophy: Untangling a molecular enigma

Tawil, R.

Neurology. 2003; 61: 151.

Inclusion body myositis.

Tawil R, Griggs RC

Current opinion in rheumatology.. 2002 November 14 (6):653-7. Epub 1900 01 01.

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R

The Journal of clinical investigation.. 2002 August 110 (3):381-8. Epub 1900 01 01.

Randomized pilot trial of betaINF1a (Avonex) in patients with inclusion body myositis.

Neurology.. 2001 November 1357 (9):1566-70. Epub 1900 01 01.

Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy.

Kissel JT, McDermott MP, Mendell JR, King WM, Pandya S, Griggs RC, Tawil R,

Neurology.. 2001 October 2357 (8):1434-40. Epub 1900 01 01.

Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy.

Tim RW, Gilbert JR, Stajich JM, Rampersaud E, Viles KD, Tawil R, Padberg GW, Frants R, van der Maarel S, Bossen EH, Friedman AH, Pericak-Vance MA, Speer MC

Journal of clinical neuromuscular disease.. 2001 September 3 (1):1-7. Epub 1900 01 01.

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptácek LJ

Cell.. 2001 May 18105 (4):511-9. Epub 1900 01 01.

Clinical studies in non-chromosome 4-linked facioscapulohumeral muscular dystrophy

Tim RW, Gilbert JR, Stajich JM et al.

J Clinical Neuromuscular Disease. 2001; 3: 1-7.

K-40 and dual-energy X-ray absorptiometry estimates of lean weight compared. Normals and patients with neuromuscular disease.

Forbes GB, Griggs RC, Moxley RT, Thornton CT, Tawil R

Annals of the New York Academy of Sciences.. 2000 May 904 :111-4. Epub 1900 01 01.

Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis.

Tawil R, McDermott MP, Brown R, Shapiro BC, Ptacek LJ, McManis PG, Dalakas MC, Spector SA, Mendell JR, Hahn AF, Griggs RC

Annals of neurology.. 2000 January 47 (1):46-53. Epub 1900 01 01.

Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.

Bendahhou S, Cummins TR, Tawil R, Waxman SG, Ptácek LJ

The Journal of neuroscience : the official journal of the Society for Neuroscience.. 1999 June 1519 (12):4762-71. Epub 1900 01 01.

Definitive molecular diagnosis of facioscapulohumeral dystrophy.

Orrell RW, Tawil R, Forrester J, Kissel JT, Mendell JR, Figlewicz DA

Neurology.. 1999 June 1052 (9):1822-6. Epub 1900 01 01.

Outlook for therapy in the muscular dystrophies.

Tawil R

Seminars in neurology.. 1999 19 (1):81-6. Epub 1900 01 01.

Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. FSH-DY Group.

Kissel JT, McDermott MP, Natarajan R, Mendell JR, Pandya S, King WM, Griggs RC, Tawil R

Neurology.. 1998 May 50 (5):1402-6. Epub 1900 01 01.

Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium.

Tawil R, Figlewicz DA, Griggs RC, Weiffenbach B

Annals of neurology.. 1998 March 43 (3):279-82. Epub 1900 01 01.

Andersen's syndrome: a distinct periodic paralysis.

Sansone V, Griggs RC, Meola G, Ptácek LJ, Barohn R, Iannaccone S, Bryan W, Baker N, Janas SJ, Scott W, Ririe D, Tawil R

Annals of neurology.. 1997 September 42 (3):305-12. Epub 1900 01 01.

A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): implications for therapeutic trials. The FSH-DY Group.

Neurology.. 1997 January 48 (1):38-46. Epub 1900 01 01.

A pilot trial of prednisone in facioscapulohumeral muscular dystrophy. FSH-DY Group.

Tawil R, McDermott MP, Pandya S, King W, Kissel J, Mendell JR, Griggs RC

Neurology.. 1997 January 48 (1):46-9. Epub 1900 01 01.

Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis.

Fouad G, Dalakas M, Servidei S, Mendell JR, Van den Bergh P, Angelini C, Alderson K, Griggs RC, Tawil R, Gregg R, Hogan K, Powers PA, Weinberg N, Malonee W, Ptácek LJ

Neuromuscular disorders : NMD.. 1997 January 7 (1):33-8. Epub 1900 01 01.

Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group.

Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, King W, Weiffenbach B, Figlewicz D

Annals of neurology.. 1996 June 39 (6):744-8. Epub 1900 01 01.

A puzzling case of periodic paralysis.

Griggs RC, Bender AN, Tawil R

Muscle & nerve.. 1996 March 19 (3):362-4. Epub 1900 01 01.

Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus.

Tawil R, Myers GJ, Weiffenbach B, Griggs RC

Archives of neurology.. 1995 November 52 (11):1069-72. Epub 1900 01 01.

Monozygotic twins with facioscapulohumeral dystrophy (FSHD): implications for genotype/phenotype correlation. FSH-DY Group.

Griggs RC, Tawil R, McDermott M, Forrester J, Figlewicz D, Weiffenbach B

Muscle & nerve. Supplement. 1995 2 :S50-5. Epub 1900 01 01.

Monozygotic twins with facioscapulohumeral dystrophy (FSHD): implications for genotype/phenotype correlation.

Griggs RC, Tawil R, McDermott M, Forrester J, Figlewicz D, Weiffenbach B

Muscle & nerve. Supplement. 1995 (2):S50-5. Epub 1900 01 01.

Trial of immunosuppression in amyotrophic lateral sclerosis using total lymphoid irradiation.

Haverkamp LJ, Smith RG, Appel SH

Annals of neurology.. 1994 August 36 (2):253-4. Epub 1900 01 01.

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.

Ptá?ek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F

Neurology.. 1994 August 44 (8):1500-3. Epub 1900 01 01.

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

Ptácek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwieci?ski H, McManis PG, Santiago L, Moore M, Fouad G

Cell.. 1994 June 1777 (6):863-8. Epub 1900 01 01.

Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features.

Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C, Griggs RC

Annals of neurology.. 1994 March 35 (3):326-30. Epub 1900 01 01.

Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. The FSH DY Group.

Personius KE, Pandya S, King WM, Tawil R, McDermott MP

Physical therapy.. 1994 March 74 (3):253-63. Epub 1900 01 01.

Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing. FSH-DY Group.

Tawil R, McDermott MP, Mendell JR, Kissel J, Griggs RC

Neurology.. 1994 March 44 (3 Pt 1):442-6. Epub 1900 01 01.

Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction.

Rifai Z, Klitzke M, Tawil R, Kazee AM, Shanske S, DiMauro S, Griggs RC

Archives of neurology.. 1994 January 51 (1):90-4. Epub 1900 01 01.

Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases.

Griggs RC, Tawil R, Storvick D, Mendell JR, Altherr MR

Neurology.. 1993 November 43 (11):2369-72. Epub 1900 01 01.

Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events.

Weiffenbach B, Dubois J, Storvick D, Tawil R, Jacobsen SJ, Gilbert J, Wijmenga C, Mendell JR, Winokur S, Altherr MR

Nature genetics.. 1993 June 4 (2):165-9. Epub 1900 01 01.

Acetazolamide-induced nephrolithiasis: implications for treatment of neuromuscular disorders.

Tawil R, Moxley RT, Griggs RC

Neurology.. 1993 June 43 (6):1105-6. Epub 1900 01 01.

Extreme variability of expression in monozygotic twins with FSH muscular dystrophy.

Tawil R, Storvick D, Feasby TE, Weiffenbach B, Griggs RC

Neurology.. 1993 February 43 (2):345-8. Epub 1900 01 01.

Chromosome 4q DNA rearrangement in monozygotic twins discordant for facioscapulohumeral muscular dystrophy.

Tawil R, Storvick D, Weiffenbach B, Altherr MR, Feasby TE, Griggs RC

Human mutation.. 1993 2 (6):492-4. Epub 1900 01 01.

Linkage of atypical myotonia congenita to a sodium channel locus.

Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M

Neurology.. 1992 February 42 (2):431-3. Epub 1900 01 01.

Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

Ptácek LJ, George AL, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF

Cell.. 1991 November 2967 (5):1021-7. Epub 1900 01 01.

Polysensory interactions on single neurons of cat inferior colliculus.

Tawil RN, Saadé NE, Bitar M, Jabbur SJ

Brain research.. 1983 June 13269 (1):149-52. Epub 1900 01 01.

Books

The Molecular and Genetic Basis of Neurologic and Psychiatric Disease (2008)

Chapter: Facioscapulohumeral Dystrophy

Authors: Tawil, Rabi

Publisher: Wolters Kluwer/Lippincott Williams & Wilkins, Philadelphia, PA 2008

Pediatric Neurology (2006)

Chapter: Channelopathies: myotonic disorders and periodic paralysis

Authors: Moxley III RT, Tawil R

Publisher: Mosby, St. Louis 2006

Neurobase - in Medlink CD ROM (updated yearly) (2005)

Chapter: Periodic paralyses and associated disorders

Authors: Tawil R, Cleland J

Publisher: Arbor Publishing, San Diego 2005

The 5-Minute Neurology Consult (2004)

Chapter: Muscular Dystrophy, Facioscapulohumeral

Authors: Cleland J, Tawil R

Publisher: Lippincott Williams & Wilkins, Philadelphia, PA 2004

Neurobase - in Medlink CD ROM (updated yearly 2002-2004) (2004)

Chapter: Periodic paralyses and associated disorders

Authors: Tawil R, Mankodi A

Publisher: Arbor Publishing, San Diego 2004

The Molecular and Genetic Basis of Neurologic and Psychiatric Disease (2003)

Chapter: Facioscapulohumeral Dystrophy

Authors: Tawil R

Publisher: Butterworth Heinemann, Philadelphia PA 2003

Inborn Errors of Development (2003)

Chapter: KCNJ2 (KIR2.1) and the Andersen Syndrome

Authors: Renner DR, Tawil R, Tristani-Firouzi M, Ptacek L

Publisher: Oxford University Press 2003

Current Therapy in Neurologic Disease (2002)

Chapter: Periodic Paralysis

Authors: Tawil R

Publisher: Mosby, St. Louis 2002

Neuromuscular Disorders in Clinical Practice (2002)

Chapter: Facioscapulohumeral muscular dystrophy (FSHD)

Authors: Tawil R

Publisher: Butterworh Heinemann, Woburn, MA 2002

Channelopathies (2001)

Chapter: The periodic paralyses: hyperkalaemic and hypokalemic paralysis

Authors: Tawil R

Publisher: Butterworth-Heiinemann, Oxford, Woburn 2001

Disorders of Voluntary Muscle (2001)

Chapter: Facioscapulohumeral muscular dystrophy

Authors: Tawil R, Griggs RC

Publisher: Cambridge University Press, Cambridge 2001

Neurogenetics (2000)

Chapter: Channelopathies

Authors: Tawil R, Griggs RC, Rose M

Publisher: EA Davis Company 2000

Pediatric Neurology (1999)

Chapter: Channelopathies: myotonic disorders and periodic paralysis

Authors: Moxley III RT, Tawil R, Thornton CA

Publisher: Mosby, St. Louis 1999

The Molecular and Genetic Basis of Neurological Disease (1997)

Chapter: Facioscapulohumeral muscular dystrophy

Authors: Tawil R, Griggs RC

Publisher: Butterworth-Heinemann Publishers 1997

Handbook of Muscle Diseases (1996)

Chapter: Hypokalemic periodic paralysis

Authors: Tawil R, Griggs RC

Publisher: Marcel Dekker, Basel 1996

Recent Advances in Clinical Neurophysiology (1996)

Chapter: Implications of molecular defects for classification & tx of periodic paralysis

Authors: Griggs RC, Tawil R, Brown RH, et al

Publisher: Elsevier Science B.V 1996

Current Neurology (1995)

Chapter: Myotonic Disorders

Authors: Moxley RT; Griggs RC; Tawil R

Publisher: Mosby Year Book, Chicago 1995

Locations

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Rochester, NY 14642-0001

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